De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

Berg, Lutz-Peter, Grundy, Catherine B., Thomas, Frank, Millar, David Stuart, Green, Peter J., Slomski, Ryszard, Reiss, Jochen, Kakkar, Vijay V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1992. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics 13 (4) , pp. 1359-1361. 10.1016/0888-7543(92)90070-9

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Abstract

A single basepair substitution at conserved position −1 in the exon 3a donor splice site of the liver-expessed antithrombin III (AT3) gene was detected by PCR/direct sequencing in a patient with sporadic type 1 ATIII deficiency and recurrent venous thrombosis. The lesion, a heterozygous silent AAG → AAA transition at Lys 176 occurred de novo in the proposita. Ectopic transcript analysis of lymphocyte mRNA demonstrated the presence of an abnormally sized mRNA specific to the patient which was shown by cDNA sequencing to lack exon 3a. Oligonucleotide discriminant hybridization demonstrated the absence of any detectable transcript of normal length derived from the disease allele. These findings demonstrate the utility of ectopic transcript analysis in the characterization of defects of mRNA splicing.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0888-7543
Last Modified:	06 May 2023 01:15
URI:	https://orca.cardiff.ac.uk/id/eprint/62023

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